Hipertermia maligna en paciente sometida a mastectomía radical tipo Madden / Malignant hyperthermia in a patient undergoing Madden type radical mastectomy

Resumen: El objetivo del presente estudio es dar a conocer el manejo anestésico que se proporcionó ante un evento crítico hipertermia maligna (HM) en una mastectomía radical Madden programada de manera electiva, la cual fue manejada con lo que se contaba en ese momento por no tener el fármaco específico (dantroleno) para este tipo de evento HM. El cáncer de mama es una enfermedad compleja, es la primera causa de muerte en la mujer a nivel mundial, ocurre en 70% en países desarrollados. México se encuentra en un nivel intermedio, representa un problema de salud con tendencia a la alta debido al envejecimiento de la población y a mayor prevalencia en factores de riesgo. La HM es un trastorno farmacogenético desencadenado por anestésicos que liberan una masiva acumulación de calcio en el sarcoplasma, que conduce a un metabolismo acelerado y a un incremento en la actividad contráctil del musculoesquelético, llevando a un estado hipermetabólico que genera un incremento en la temperatura corporal llegando a tener secuelas importantes y una alta mortalidad. Se trató de paciente femenino 40 años sin antecedentes relevantes para procedimientos anestésicos, se aplicó anestesia general balanceada, a los 60 minutos presentó datos clínicos que nos sugerían hipertermia maligna, fue manejada con los medios disponibles y se obtuvo un resultado favorable desde el punto de vista de morbimortalidad.

Abstract: The objective of the present is to present the anesthetic management that occurred before a critical event malignant hyperthermia HM) in an electively scheduled Madden radical mastectomy and which was managed with what was available at that time for not having the drug specific (dantrolene) for this type of event HM. Breast cancer is a complex disease, being the leading cause of death in women worldwide, with 70% occurring in developed countries. Mexico is at an intermediate level, being a health problem with a tendency to rise due to the aging of the population. population and higher prevalence of risk factors. Malignant hyperthermia (MH) is an anesthetic-triggered pharmacogenetic disorder that triggers a massive accumulation of calcium in the sarcoplasm, leading to accelerated metabolism and increased skeletal muscle contractile activity. Leading to a hypermetabolic state showing an increase in body temperature, leading to significant sequelae and high mortality. It was a 40-year-old female with no relevant history for anesthetic procedures, being managed with balanced general anesthesia at 60 minutes present data clinicians that they suggested malignant hyperthermia, being managed. With the available means, obtaining a favorable result from the point of view of morbidity and mortality.

La terapia electroconvulsiva en el síndrome neuroléptico maligno / Electroconvulsive therapy in neuroleptic malignant syndrome

Resumen: Uno de los efectos adversos más importantes de los neurolépticos es la posibilidad de desencadenar el síndrome neuroléptico maligno (NMS). El diagnóstico se determina por exclusión y el manejo terapéutico inicial será retirado por neurolépticos por la administración de benzodiacepinas y, en casos extremos, el uso de la terapia electroconvulsiva (ECT). La ECT es una opción terapéutica eficaz en estos pacientes y en esos casos se obtiene una mala respuesta a la administración con fármacos antipsicóticos. Basándonos en el caso del artículo «Rocuronium-sugammadex for electroconvulsive therapy management in neuroleptic malignant síndrome. A case report¼ donde se describe el manejo exitoso del uso de relajantes no despolarizantes y su reversor específico en terapias electroconvulsivas en pacientes diagnosticados de síndrome neuroléptico maligno, comentamos la fisiopatología e implicaciones anestésicas además de similitudes con otras entidades hipertérmicas, como es la hipertermia maligna.

Abstract: One of the most important adverse effects of neuroleptics is the possibility of triggering neuroleptic malignant syndrome (NMS). The diagnosis is determined by exclusion and the initial therapeutic management will be withdrawn by neuroleptics by the administration of benzodiazepines and, in extreme cases, the use of electroconvulsive therapy (ECT). ECT is an effective therapeutic option in these patients and in these cases a poor response to administration with antipsychotic drugs is obtained. Based on the case of the article «Rocuronium-sugammadex for the management of electroconvulsive therapy in neuroleptic malignant syndrome. A case report¼ where the successful management of the use of non-depolarizing relaxants and their specific reversal in electroconvulsive therapies in patients diagnosed with of malignant neuroleptic syndrome, we comment on the pathophysiology and anesthetic images as well as similarities with other hyperthermic entities, such as malignant hyperthermia.

Hipertermia maligna / Malignant hyperthermia

Resumen: La hipertermia maligna es un raro desorden farmacogenético potencialmente mortal, que se presenta como una respuesta hipermetabólica a los anestésicos volátiles y relajantes musculares despolarizantes en individuos susceptibles. Esta susceptibilidad se asocia a mutaciones en tres genes: RYR1, CACNA1S y STAC3. Puede manifestarse con síntomas leves o como una crisis fulminante, con rabdomiólisis severa, fibrilación ventricular e insuficiencia renal y circulatoria aguda, por lo tanto, el pronóstico depende de qué tan pronto se sospeche del diagnóstico y qué tan rápido se inicie el tratamiento. El diagnóstico definitivo se basa en una prueba de sensibilidad en biopsia muscular fresca y en pruebas genéticas. La mejor manera de prevenir un evento es la detección precoz de los pacientes susceptibles así como contar con el equipo para responder ante una crisis en cada centro donde se administren anestésicos volátiles y la capacitación del personal. Esta revisión sintetiza los conceptos actuales clínicos y biomédicos para detección, prevención, diagnóstico y manejo de la hipertermia maligna.

Abstract: Malignant hyperthermia is a rare, life-threatening pharmacogenetic disorder which presents as a hypermetabolic response to volatile anesthetics and depolarizing muscle relaxants in susceptible individuals. This susceptibility is associated with mutations in three genes: RYR1, CACNA1S and STAC3. Can manifest with mild symptoms or as a fulminant crisis, with severe rhabdomyolysis, ventricular fibrillation and acute renal and circulatory failure, therefore the prognosis depends on how soon the diagnosis is suspected and how fast treatment is started. The definitive diagnosis is based on a fresh muscle biopsy sensitivity test and genetic testing. The best way to prevent an event is the early detection of susceptible, as well as have equipment to respond to a crisis in each center where volatile anesthetics are administered and the training of staff. This review synthesizes current clinical and biomedical concepts for detection, prevention, diagnosis and management of malignant hyperthermia.

Anaesthetic implications for Pompe disease. A case description.

Pompe disease, or type II glycogenosis, is a rare metabolic myopathy inherited in an autosomal recessive pattern, characterized by progressive muscle weakness and multisystem involvement. The disease often results in premature death. Patients with Pompe disease are at high risk for anaesthesia-related complications, particularly cardiac and respiratory problems, although difficult airway management is the greatest complication. It is essential to perform a comprehensive preoperative study in order to reduce the risk of perioperative morbidity and mortality, and to obtain as much information as possible for the surgical procedure. In this article, we report the case of a patient with a history of adult Pompe disease who underwent combined anaesthesia for osteosynthesis of the proximal end of the left humerus.

Implicaciones anestésicas en la enfermedad de Pompe. Descripción de un caso / Anaesthetic implications for Pompe disease. A case description

La enfermedad de Pompe o glucogenosis tipo ii es una miopatía metabólica rara, de herencia autosómica recesiva, que se caracteriza por debilidad muscular progresiva y afectación multisistémica, acompañada, habitualmente, de muerte temprana. Los pacientes con esta enfermedad presentan alto riesgo anestésico en relación con problemas tanto de origen cardiaco como respiratorio, aunque las mayores complicaciones son las derivadas del manejo de la vía aérea, potencialmente dificultoso. Un buen estudio preoperatorio es fundamental para disminuir la morbimortalidad perioperatoria, optimizando y aportando la mayor información posible de cara a la intervención quirúrgica. En este artículo se expone el caso de un paciente con antecedentes de enfermedad de Pompe del adulto sometido a anestesia combinada para osteosíntesis de extremo proximal de húmero izquierdo.(AU)

Pompe disease, or type ii glycogenosis, is a rare metabolic myopathy inherited in an autosomal recessive pattern, characterized by progressive muscle weakness and multisystem involvement. The disease often results in premature death. Patients with Pompe disease are at high risk for anaesthesia-related complications, particularly cardiac and respiratory problems, although difficult airway management is the greatest complication. It is essential to perform a comprehensive preoperative study in order to reduce the risk of perioperative morbidity and mortality, and to obtain as much information as possible for the surgical procedure. In this article, we report the case of a patient with a history of adult Pompe disease who underwent combined anaesthesia for osteosynthesis of the proximal end of the left humerus.(AU)

Manejo de recursos en crisis, importancia de las ayudas cognitivas en anestesia / Resource management in crisis, importance of cognitive aids in anesthesia

Resumen: Las ayudas cognitivas son herramientas diseñadas para guiar al usuario en situaciones de crisis, tales ayudas proporcionan instrucciones y garantizan que las tareas a realizar durante la emergencia se lleven a cabo con la mayor exactitud y con esto evitar la omisión de la mayor cantidad de pasos o tareas durante el evento. Está demostrado que las ayudas cognitivas aumentan el rendimiento de los anestesiólogos durante las situaciones de crisis simuladas y más cuando se somete al usuario a casos clínicos raros o de baja incidencia. Presentamos el caso de una mujer de 33 años programada a cirugía electiva, la cual acude súbitamente por probable hipertermia maligna desencadenada por desflurane. Un reader encargado de la lectura de las ayudas cognitivas durante el evento guió las acciones así como el tratamiento sintomático y específico posterior al diagnóstico. Actualmente se recomienda no confiar en la memoria en situaciones de crisis, ya que puede haber omisiones importantes en el diagnóstico, tratamiento y pronóstico.

Abstract: Cognitive aids are tools designed to guide the user in crisis situations, such aids provide instructions and ensure that the tasks to be performed during the emergency are carried out with the greatest accuracy and thus avoid the omission of as many steps or tasks during the event. It is demonstrated that cognitive aids increase the performance of anesthesiologists during simulated crisis situations and more when the user is subjected to rare or low incidence clinical cases. We present the case of a 33-year-old woman scheduled for elective surgery, who suddenly presented probable malignant hyperthermia triggered by desflurane. The actions as well as the symptomatic and specific treatment after diagnosis, was guided by a «reader¼ in charge of reading the cognitive aids during the event. It is currently recommended not to rely on memory in crisis situations as there may be important omissions in diagnosis, treatment and prognosis.

Caso de hipertermia maligna en paciente intervenida de apendicectomía laparoscópica / Malignant Hyperthermia after a laparoscopic appendicectomy: Case report

Malignant hyperthermia is an hypermetabolic syndrome in which the intracellular calcium receptors are altered. Patients who present compatible symptoms with this symdrome are genetically predisposed. Many of the cases have been described in the surgical area, due to the use of anesthesic drugs and neuromuscular blockers. However, there are some cases with an unknown trigger. The prevalence of the syndrome is very difficult to estimate. The diagnosis and early treatment are pronostic factors predicting the evolution of the syndrome.

La hipertermia maligna es conocida como un síndrome de estimulación masiva del metabolismo, debido a la alteración en la liberación de calcio intracelular. Muchos pacientes que presentan clínica compatible con este síndrome están genéticamente predispuestos. La mayoría de los casos se describen en el ámbito quirúrgico, con el empleo de fármacos anestésicos y determinados relajantes neuromusculares, aunque también existen casos en los que no se halla desencadenante. De prevalencia difícil de estimar, la sospecha diagnóstica y el tratamiento precoz marcan el pronóstico evolutivo de estos pacientes.

Síndrome de hipertermia maligna: una patología infrecuente / Malignant hyperthermia syndrome: A rare entity

Resumen Introducción: El síndrome de hipertermia maligna es un trastorno farmacogenético del músculo esquelético de carácter hereditario, que se caracteriza por un estado hipermetabólico relacionado con la exposición a anestésicos inhalatorios o relajantes musculares despolarizantes. Se trata de una afección infrecuente en individuos genéticamente predispuestos, con una incidencia muy baja en pediatría (1 de cada 10,000-15,000 procedimientos anestésicos). Caso clínico: Se presenta un caso de hipertermia maligna relacionado con la exposición a sevoflurano durante una cirugía de adenoidectomía en un paciente de sexo femenino de 6 años de edad. La paciente presentó taquicardia, hipercapnia e hipertermia, que precisaron la administración de dos dosis sucesivas de dantroleno sódico. La evolución posterior fue buena. Conclusiones: El síndrome de hipertermia maligna es un cuadro poco frecuente en la edad pediátrica. Se debe sospechar de forma precoz, ya que es fundamental su detección temprana para iniciar el tratamiento.

Abstract Background: Malignant hyperthermia syndrome is a hereditary pharmacogenetic disorder of skeletal muscle characterized by hypermetabolic state related to the exposure of volatile anesthetic gases or depolarizing muscle relaxants. It is an infrequent entity that occurs in genetically predisposed individuals, with a very low incidence in pediatrics (1 in 10,000-15,000 anesthetic procedures). Case report: We report a case of malignant hyperthermia related to exposure to sevoflurane during adenoidectomy surgery in a 6-year-old female. The patient presented with tachycardia, hypercapnia, and hyperthermia, requiring two successive doses of dantrolene sodium administration, with an adequate response to the treatment. Conclusions: Malignant hyperthermia syndrome is a rare condition in pediatric patients that should be detected in early stages since it is essential to initiate the treatment as soon as possible.

Malignant hyperthermia syndrome: A rare entity.

Background: Malignant hyperthermia syndrome is a hereditary pharmacogenetic disorder of skeletal muscle characterized by hypermetabolic state related to the exposure of volatile anesthetic gases or depolarizing muscle relaxants. It is an infrequent entity that occurs in genetically predisposed individuals, with a very low incidence in pediatrics (1 in 10,000-15,000 anesthetic procedures). Case report: We report a case of malignant hyperthermia related to exposure to sevoflurane during adenoidectomy surgery in a 6-year-old female. The patient presented with tachycardia, hypercapnia, and hyperthermia, requiring two successive doses of dantrolene sodium administration, with an adequate response to the treatment. Conclusions: Malignant hyperthermia syndrome is a rare condition in pediatric patients that should be detected in early stages since it is essential to initiate the treatment as soon as possible.

Background: Introducción">El síndrome de hipertermia maligna es un trastorno farmacogenético del músculo esquelético de carácter hereditario, que se caracteriza por un estado hipermetabólico relacionado con la exposición a anestésicos inhalatorios o relajantes musculares despolarizantes. Se trata de una afección infrecuente en individuos genéticamente predispuestos, con una incidencia muy baja en pediatría (1 de cada 10,000-15,000 procedimientos anestésicos). Caso clínico: Se presenta un caso de hipertermia maligna relacionado con la exposición a sevoflurano durante una cirugía de adenoidectomía en un paciente de sexo femenino de 6 años de edad. La paciente presentó taquicardia, hipercapnia e hipertermia, que precisaron la administración de dos dosis sucesivas de dantroleno sódico. La evolución posterior fue buena. Conclusiones: El síndrome de hipertermia maligna es un cuadro poco frecuente en la edad pediátrica. Se debe sospechar de forma precoz, ya que es fundamental su detección temprana para iniciar el tratamiento.

[General anesthesia for Crisponi syndrome: case report]. / Anestesia geral para Síndrome de Crisponi: relato de caso.

Crisponi syndrome is a rare and severe heritable disorder characterised by muscle contractions, trismus, apnea, feeding troubles, and unexplained high fever spikes with multiple organ failure. Here we report perioperative care for endoscopic gastrostomy of a 17 month-old female child with Crisponi syndrome. Temperature in the surgery room was strictly monitored and maintained at 19°C. The patient was exposed to both inhaled and intravenous anesthetic agents. Surgical and perioperative periods were uneventful. Episodes of fever in Crisponi syndrome arise from CRLF1 mutation, which differs from the physiological pathway underlying malignant hyperthermia.

Cost-benefit relationship of keeping dantrolene stocks from the point of view of healthcare institutions / Relación costo-efectividad del abastecimiento de dantroleno desde el punto de vista del prestador de servicios de salud

Abstract Introduction: Malignant hyperthermia (MH) is an acute syndrome triggered by certain anesthetic medications. Dantrolene is the only specific treatment for MH crises. Without treatment, lethality may be as high as 80%. In Colombia, it is not mandatory to keep dantrolene supplies in stock. Objective: To establish the cost-benefit ratio, from the perspective of healthcare institutions, of keeping dantrolene supplies in stock in the operating theater. Methods: Using a decision tree, a Monte Carlo simulation was run with 10,000 scenarios to determine the median annual cost of keeping full or partial stocks (36 or 12 vials x 20 mg, respectively) of dantrolene. For the option of not keeping supplies in stock, the cost threshold was calculated where the expected value of both alternatives of the decision tree is equalized. Indifference curves were constructed for complete and partial supplies. Results: The median annual cost was estimated at 6.6 million Colombian pesos (COP) for full dantrolene supplies, and at COP 2.2 million for partial supplies. The median economic consequence threshold for 1 death due to the unavailability of dantrolene was estimated at COP 18.5 million for full supplies, and at COP 57.0 million for partial supplies. Conclusion: If, as a result of the unavailability of dantrolene, the economic consequences of a death due to MH exceed the threshold of COP 57.0 or COP 18.5 million, the purchase of full or partial stocks, respectively, is justified.

Resumen Introducción: La hipertermnia maligna (HM) es un síndrome agudo desencadenado por algunos medicamentos anestésicos. El dantroleno es el único tratamiento específico para las crisis de HM. Sin tratamiento puede tener una letalidad cercana al 80%. En Colombia, el abastecimiento de dantroleno no es obligatorio. Objetivo: Establecer la relación costo-efectividad, desde el punto de vista de las instituciones prestadoras de servicios de salud, de mantener un abastecimiento de dantroleno en quirófanos. Métodos: Mediante un árbol de decisiones se realizó una simulación Monte Carlo con 10 mil escenarios para determinar la mediana del costo anual de un abastecimiento completo o parcial (36 o 12 viales de 20 mg, respectivamente) de dantroleno. Para la alternativa de no tener abastecimiento, se calculó el umbral de costo, donde se iguala el valor esperado de ambas alternativas del árbol de decisiones. Se construyeron curvas de indiferencia para el abastecimiento completo y parcial. Resultados: La mediana del costo anual del abastecimiento completo de dantroleno se estimó en $6.6 millones de pesos colombianos (COP), y el del abastecimiento parcial en $2.2 millones COP. La mediana del umbral de consecuencias económicas por una muerte sin disponibilidad de dantroleno se estimó en 18.5 millones COP para el abastecimiento completo, y en 57.0 millones COP para el abastecimiento parcial. Conclusión: Si por no disponer de dantroleno las consecuencias económicas de una muerte por HM superan el umbral de $57.0 o $18.5 millones COP, se justifica la compra de un abastecimiento completo o parcial, respectivamente.

General anesthesia for Crisponi syndrome: case report / Anestesia geral para Síndrome de Crisponi: relato de caso

Abstract Crisponi syndrome is a rare and severe heritable disorder characterised by muscle contractions, trismus, apnea, feeding troubles, and unexplained high fever spikes with multiple organ failure. Here we report perioperative care for endoscopic gastrostomy of a 17 month-old female child with Crisponi syndrome. Temperature in the surgery room was strictly monitored and maintained at 19ºC. The patient was exposed to both inhaled and intravenous anesthetic agents. Surgical and perioperative periods were uneventful. Episodes of fever in Crisponi syndrome arise from CRLF1 mutation, which differs from the physiological pathway underlying malignant hyperthermia.

Resumo A Síndrome de Crisponi é uma condição clínica hereditária grave e rara caracterizada por contrações musculares, trismo, apneia, distúrbios na alimentação, picos de febre alta e inexplicável, e falência de múltiplos órgãos. Descrevemos o cuidado perioperatório de paciente pediátrica com 17 meses de idade, portadora da Síndrome de Crisponi, submetida a gastrostomia endoscópica. A temperatura da sala de cirurgia foi cuidadosamente monitorizada e mantida a 19ºC. A paciente foi submetida a agentes anestésicos inalatórios e venosos. O cuidado cirúrgico e perioperatório desenvolveram-se sem incidentes. As crises de febre na Síndrome de Crisponi originam-se de mutação no gene CRLF1, o que as diferenciam do mecanismo fisiopatológico da hipertermia maligna.

Estratégia educativa com profissionais de enfermagem sobre hipertermia maligna em um centro cirúrgico cardiovascular / Educational strategy with nursing professionals on malignant hypertermia in a cardiovascular surgical center / Estrategia educativa con profesionales de enfermería en hipertermia maligna en un centro quirúrgico cardiovascular

Objetivos: Avaliar o conhecimento da equipe de enfermagem do centro cirúrgico (CC) sobre hipertermia maligna (HM), antes e depois de aula expositiva, e implantar kit para tratamento da HM com os anestesiologistas. Método: Estudo quase experimental do tipo antes e depois. Coleta de dados com 43 profissionais (três enfermeiros, sete técnicos e 33 auxiliares) do CC de um hospital de cardiologia de São Paulo. Aplicaram-se cinco questões antes e depois de aula expositiva, e utilizaram-se teste exato de Fisher e teste de McNemar. Após análise da literatura e dos materiais do setor e reunião com equipe médica, elaborou-se um kit de tratamento. Resultados: Houve diferença significante (p<0,05) em relação ao conhecimento da equipe sobre HM; após a aula, viu-se progresso nas três categorias (auxiliares 89,42%, técnicos 90% e enfermeiros 100%). As questões com porcentagem acima de 90%, após a aula, foram: definição de HM, agentes desencadeantes e tratamento. Foi elaborado e implantado um kit de tratamento. Conclusão: Avaliou-se o conhecimento da equipe de enfermagem sobre HM, antes e depois da aula expositiva, e implantou-se kit de tratamento. O conhecimento da equipe foi satisfatório após a aula ministrada.

Objectives: To evaluate the knowledge of the nursing staff of the surgical center (SC) about malignant hyperthermia (MH), before and after lecture, and to implant a kit for the treatment of MH with anesthesiologists. Method: Quasi-experimental before and after study. Data collection with 43 professionals (three nurses, seven technicians and 33 assistants) from the SC of a cardiology hospital in São Paulo. Five questions were applied before and after lecture, and McNemar and Fisher's exact tests were used. After analyzing the literature and industry materials and meeting with the medical team, a treatment kit was prepared. Results: There was a significant difference (p <0.05) regarding the team's knowledge about MH; After class, progress was seen in the three categories (assistants 89.42%, technicians 90%, and nurses 100%). The questions with percentage above 90% after class were: definition of MH, triggering agents, and treatment. A treatment kit was developed and implemented. Conclusion: The knowledge of the nursing staff about MH before and after the lecture was evaluated, and a treatment kit was implemented. The knowledge of the team was satisfactory after the taught class.

Objetivos: Evaluar el conocimiento del personal de enfermería del quirófano (CQ) sobre la hipertermia maligna (HM), antes y después de la conferencia, e implantar un kit para el tratamiento de HM con anestesiólogos. Método: Cuasi-experimental antes y después del estudio. Recopilación de datos con 43 profesionales (tres enfermeras, siete técnicos y 33 asistentes) del CQ de un hospital de cardiología en São Paulo. Se aplicaron cinco preguntas antes y después de la conferencia, y se utilizaron la prueba exacta de Fisher y la prueba de McNemar. Después de analizar la literatura y los materiales de la industria y de reunirse con el equipo médico, se preparó un kit de tratamiento. Resultados: Hubo una diferencia significativa (p<0.05) con respecto al conocimiento del equipo sobre MH; Después de la clase, se observó progreso en las tres categorías (auxiliares 89.42%, técnicos 90% y enfermeras 100%). Las preguntas con un porcentaje superior al 90% después de la clase fueron: definición de MH, agentes desencadenantes y tratamiento. Se desarrolló e implementó un kit de tratamiento. Conclusión: Se evaluó el conocimiento del personal de enfermería sobre MH antes y después de la conferencia, y se implementó un kit de tratamiento. El conocimiento del equipo fue satisfactorio después de la clase impartida.

Consideraciones anestésicas en el síndrome de Moebius: a propósito de un caso / Anesthetic considerations in Moebius syndrome: apropos of a case

Resumen: El síndrome de Moebius es una entidad rara que puede acompañarse de alteraciones que dificulten la anestesia, tales como dificultad de venoclisis, mayor incidencia de depresión respiratoria o de vía aérea difícil. En ocasiones se presenta de forma atípica y puede tener alteraciones del gen RyR con susceptibilidad a hipertermia maligna. Nuestro objetivo en este caso clínico es revisar la preparación necesaria para estos pacientes previa al acto anestésico y quirúrgico, centrándonos en la hipertermia maligna.

Abstract. Moebius syndrome is an uncommon illness that can be associated with different alterations related to anesthesia such as difficult peripheral venous catheterization, more respiratory failure incidence or difficult airway. When this syndrome is accompanied by atypical presentation it can be associated with RyR gen alterations and malignant hyperthermia susceptibility. Our objective with this case is to review which is the preparation required in order to a general anesthesia, focusing on malignant hyperthermia.

Malignant hyperthermia in a child after magnetic resonance imaging: a case report / Hipertermia maligna em criança após exame de ressonância magnética: relato de caso

ABSTRACT Objective: To report on a case of malignant hyperthermia in a child after a magnetic resonance imaging of the skull was performed using sevoflurane anesthesia. Case description: A 3-year-old boy admitted to the pediatric intensive care unit after presenting clinical and laboratory findings consistent with unspecified viral meningoencephalitis. While the patient was sedated, a magnetic resonance imaging of the skul was performed using propofol followed by the administration of sevoflurane through a laryngeal mask in order to continue anesthesia. Approximately three hours after the start of the procedure, the patient presented persistent tachycardia, tachypnea, generalized muscular stiffness and hyperthermia. With a diagnostic hypothesis of malignant hyperthermia, dantrolene was then administered, which immediately induced muscle stiffness, tachycardia, tachypnea and reduced body temperature. Comments: Malignant hyperthermia is a rare pharmacogenetic syndrome characterized by a severe hypermetabolic reaction after the administration of halogenated inhalational anesthetics or depolarizing muscle relaxants such as succinylcholine, or both. Although it is a potentially fatal disease, the rapid administration of continued doses dantrolene has drastically reduced the morbidity and mortality of the disease.

RESUMO Objetivo: Relatar um caso de hipertermia maligna em criança após exame de ressonância magnética de crânio realizada sob efeito anestésico de sevoflurano. Descrição do caso: Menino de três anos de idade, admitido na Unidade de Terapia Intensiva Pediátrica (UTIP) após apresentar quadros clínico e laboratorial compatíveis com meningoencefalite viral não especificada. Foi realizado um exame de ressonância magnética de crânio com sedação utilizando, na indução anestésica, o propofol seguido pela administração de sevoflurano por meio de máscara laríngea para manutenção anestésica. Aproximadamente três horas após o início do procedimento, o paciente apresentou taquicardia, taquipneia, rigidez muscular generalizada e hipertermia persistentes. Com hipótese diagnóstica de hipertermia maligna, foi então administrado dantrolene, que fez ceder de forma imediata a rigidez muscular, a taquicardia, a taquipneia e reduziu a temperatura corporal. Comentários: A hipertermia maligna é uma síndrome farmacogenética rara, que se caracteriza por reação hipermetabólica grave após administração de anestésicos inalatórios halogenados e/ou relaxantes musculares despolarizantes, como a succinilcolina. Apesar de ser uma doença potencialmente fatal, a rápida administração de dantrolene, junto às doses de manutenção, tem reduzido drasticamente a morbimortalidade da doença.

[Acute postoperative sepsis mimicking symptomology suspicious for malignant hyperthermia: case report]. / Sepse aguda pós­operatória simulando sintomatologia suspeita para hipertermia maligna: relato de caso.

BACKGROUND: Sepsis is a life-threatening organ dysfunction with non-specific clinical features that can mimic other clinical conditions with hyper metabolic state such as malignant hyperthermia. Perioperatively anesthesia providers come across such scenarios, which are extremely challenging with the need for urgent intervention. OBJECTIVE: To illustrate the need for early intervention and consultation for added assistance to approach and rule out malignant hyperthermia and other possible causes during such a scenario. CASE REPORT: A 63-year-old male underwent an uneventful elective flexible cystoscopy and transrectal ultrasound-guided prostate biopsy. Postoperatively he developed symptoms raising suspicion for malignant hyperthermia. Immediately malignant hyperthermia protocol was initiated that included administration of dantrolene and consultation of malignant hyperthermia association hotline along with other diagnostic and interventional management aimed at patient optimization. While early administration of dantrolene helped in hemodynamically stabilizing the patient, the consultation with other providers and malignant hyperthermia association hotline along with repeated examinations and lab works helped in ruling out malignant hyperthermia as the possible diagnosis. The patient later recovered in the intensive care unit where he was treated for the bacteremia that grew in his blood cultures. CONCLUSIONS: Sepsis shares clinical symptoms that mimic malignant hyperthermia. While sepsis rapidly progresses to secondary injuries, malignant hyperthermia is life threatening. Providing ideal care requires good clinical judgment and a high level of suspicion where timely and appropriate care such as early administration of dantrolene and consultation of malignant hyperthermia association hotline for added assistance can influence positive outcomes.

Acute postoperative sepsis mimicking symptomology suspicious for malignant hyperthermia: case report / Sepse aguda pós-operatória simulando sintomatologia suspeita para hipertermia maligna: relato de caso

Abstract Background: Sepsis is a life-threatening organ dysfunction with non-specific clinical features that can mimic other clinical conditions with hyper metabolic state such as malignant hyperthermia. Perioperatively anesthesia providers come across such scenarios, which are extremely challenging with the need for urgent intervention. Objective: To illustrate the need for early intervention and consultation for added assistance to approach and rule out malignant hyperthermia and other possible causes during such a scenario. Case report: A 63-year-old male underwent an uneventful elective flexible cystoscopy and transrectal ultrasound-guided prostate biopsy. Postoperatively he developed symptoms raising suspicion for malignant hyperthermia. Immediately malignant hyperthermia protocol was initiated that included administration of dantrolene and consultation of malignant hyperthermia association hotline along with other diagnostic and interventional management aimed at patient optimization. While early administration of dantrolene helped in hemodynamically stabilizing the patient, the consultation with other providers and malignant hyperthermia association hotline along with repeated examinations and lab works helped in ruling out malignant hyperthermia as the possible diagnosis. The patient later recovered in the intensive care unit where he was treated for the bacteremia that grew in his blood cultures. Conclusions: Sepsis shares clinical symptoms that mimic malignant hyperthermia. While sepsis rapidly progresses to secondary injuries, malignant hyperthermia is life threatening. Providing ideal care requires good clinical judgment and a high level of suspicion where timely and appropriate care such as early administration of dantrolene and consultation of malignant hyperthermia association hotline for added assistance can influence positive outcomes.

Resumo Justificativa: A sepse é uma disfunção orgânica fatal com características clínicas inespecíficas que podem imitar outras condições clínicas com quadro hipermetabólico, como a hipertermia maligna. Os cenários são extremamente desafiadores para a anestesia perioperatória e requerem intervenção urgente. Objetivo: Ilustrar a necessidade de intervenção e consulta precoces para uma assistência adicional na abordagem e exclusão de hipertermia maligna e outras possíveis causas durante tal cenário. Relato de caso: Paciente do sexo masculino, 63 anos, submetido à cistoscopia eletiva com cistoscópio flexível e biópsia transretal da próstata guiada por ultrassom sem intercorrências. No pós-operatório, o paciente desenvolveu sintomas que levantaram a suspeita de hipertermia maligna. O protocolo de hipertermia maligna foi imediatamente iniciado, inclusive a administração de dantrolene e uma consulta pela linha direta da associação de hipertermia maligna, juntamente com outros diagnósticos e manejos intervencionistas com vistas ao aprimoramento do paciente. Enquanto a administração precoce de dantrolene ajudou na estabilização hemodinâmica do paciente, a consulta com outros anestesistas e com a Associação de Hipertermia Maligna, juntamente com repetidos exames físicos e laboratoriais, ajudou a excluir a hipertermia maligna como o possível diagnóstico. O paciente recuperou-se mais tarde na unidade de terapia intensiva, onde recebeu tratamento para a bacteremia detectada em suas hemoculturas. Conclusões: A sepse compartilha sintomas clínicos que mimetizam a hipertermia maligna. Enquanto a sepse progride rapidamente para lesões secundárias, a hipertermia maligna é uma ameaça à vida. Proporcionar o tratamento ideal requer um bom julgamento clínico e um alto nível de suspeita quanto aos cuidados oportunos e apropriados, como a administração precoce de dantrolene e a consulta pela linha direta da Associação de Hipertermia Maligna para assistência adicional, que podem resultar em desfechos positivos.

Diagnóstico de hipertermia maligna: reporte de caso / Diagnostic of malignant hyperthermia: a case presentation

Antecedentes: La Hipertermia maligna, desorden farmacogenético autosómico dominante, se presenta en pacientes susceptibles a gases anestésicos; estimándose predisposición genética en 1:3000 individuos generada por las variantes de los genes RYR1, CACNA1, STAC3, que explican la susceptibilidad del 77%-86% de la población caucásica europea. Se reporta incidencia en-tre 1:5000-100000 procedimientos de anestesia. Se induce por liberación excesiva sin recaptación adecuada de calcio citoplásmico desde el retículo sarcoplásmico, generando rigidez muscular, alto gasto de energía como ATP, hipermetabolismo, aumento secundario de CO2, calor, rabdomiólisis, hiperpotasemia, mioglobinuria y aumento de CPK. Descripción delcaso clínico: Paciente masculino 18 años sometido a cirugía con anestesia general por apendicitis aguda, durante la cirugía presentó rigidez muscular, inestabilidad hemodinámica, hipertermia (40°C), taquicardia (Frecuencia cardiaca: 120 lpm) e hipotensión (Presión Arterial 50/20), sin esfuerzo res-piratorio y pérdida de relejos osteotendinosos. Se diagnosticó hipertermia maligna y se inició manejo, sin embargo, paciente fallece poco menos de dos horas después de haber iniciado el cuadro. Conclusiones: La Hipertermia maligna, es una condición que genera un evento en respuesta a la exposición a agentes anestésicos durante una cirugía, cuadro difícil de prevenir. El manejo requiere cele-ridad y preparación exhaustiva que debe seguir las recomendaciones de manejo europeas y estadounidenses. Este es el primer caso reportado a nivel nacional y se acompaña con una revisión que permite determinar que, aunque no se disponga del fármaco clave en el sistema nacional para mejorar el pronóstico, la protocolización preventiva y terapéutica, así como el entrenamiento en simulación del personal de quirófano podrían inluir en la supervivencia...(AU)

Anesthesia for muscle biopsy to test susceptibility to malignant hyperthermia / Anestesia durante biópsia muscular para teste de suscetibilidade à hipertermia maligna

Abstract Introduction Malignant hyperthermia is an autosomal dominant pharmacogenetic disorder, characterized by hypermetabolic crisis triggered by halogenated anesthetics and/or succinylcholine. The standard method for diagnosing malignant hyperthermia susceptibility is the in vitro muscle contracture test in response to halothane-caffeine, which requires muscle biopsy under anesthesia. We describe a series of anesthetic procedures without triggering agents in malignant hyperthermia, comparing peripheral nerve block and subarachnoid anesthesia. Method We assessed the anesthetic record charts of 69 patients suspected of malignant hyperthermia susceptibility who underwent muscle biopsy for in vitro muscle contracture in the period of 7 years. Demographic data, indication for malignant hyperthermia investigation, in vitro muscle contracture test results, and surgery/anesthesia/recovery data were analyzed. Results Sample with 34 ± 13.7 years, 60.9% women, 65.2% of in vitro muscle contracture test positive. Techniques used: peripheral nerve blocks — lateral femoral and femoral cutaneous, latency 65 ± 41 min — (47.8%); subarachnoid anesthesia (49.3%), and total venous anesthesia (1.4%). There was 39.4% failure of peripheral nerve block and 11.8% of subarachnoid anesthesia. Adverse events (8.7%) occurred only with subarachnoid blockade (bradycardia, nausea, and transient neurological syndrome). All patients remained in the post-anesthesia care unit until discharge. Age and weight were significantly higher in patients with blockade failure (ROC cut-off point of 23.5 years and 59.5 kg) and blockade failure was more frequent in the presence of increased idiopathic creatine kinase. Conclusion Anesthesia with non-triggering agents has been shown to be safe in patients with malignant hyperthermia susceptibility. Variables such as age, weight, and history of increased idiopathic creatine kinase may be useful in selecting the anesthetic technique for this group of patients.

Resumo Introdução Hipertermia maligna é uma doença farmacogenética autossômica dominante, caracterizada por crise hipermetabólica desencadeada por anestésicos halogenados e/ou succinilcolina. O padrão para diagnóstico da suscetibilidade à hipertermia maligna é o teste de contratura muscular in vitro em resposta ao halotano-cafeína, para o qual é necessária biopsia muscular sob anestesia. Descrevemos uma série de anestesias sem agentes desencadeantes na hipertermia maligna e comparamos bloqueios de nervo periférico e anestesias subaracnóideas. Método Foram analisados os prontuários/fichas anestésicas de 69 pacientes suspeitos de susceptibilidade à hipertermia maligna, submetidos à biópsia muscular para teste de contratura muscular in vitro durante sete anos. Analisamos dados demográficos, indicação para investigação de hipertermia maligna, resultado do teste de contratura muscular in vitro e dados da cirurgia/anestesia/recuperação. Resultados Amostra com 34 ± 13,7 anos, 60,9% mulheres, 65,2% de teste de contratura muscular in vitro positivos. Técnicas empregadas: 47,8% bloqueios de nervo periférico (femoral e cutâneo femoral lateral, latência 65 ± 41 minutos), 49,3% anestesias subaracnóideas e 1,4% anestesia venosa total. Falha em 39,4% dos bloqueios de nervo periférico e 11,8% das anestesias subaracnóideas. Eventos adversos (8,7%) como bradicardia, náuseas e síndrome neurológica transitória só ocorreram com bloqueio subaracnóideo. Todos os pacientes permaneceram na sala de recuperação pós-anestésica até liberação. Idade e peso foram significativamente maiores nos pacientes com falha no bloqueio (ponto de corte da curva ROC de 23,5 anos e 59,5 Kg) e esta foi mais frequente na presença de aumento idiopático de creatinoquinase. Conclusão Anestesia com agentes não desencadeantes mostrou-se segura em pacientes suscetíveis à hipertermia maligna. Variáveis como idade, peso e antecedente de aumento idiopático de creatinoquinase podem ser úteis para selecionar a técnica anestésica nesse grupo.

[Anesthesia for muscle biopsy to test susceptibility to malignant hyperthermia]. / Anestesia durante biópsia muscular para teste de suscetibilidade à hipertermia maligna.

INTRODUCTION: Malignant hyperthermia is an autosomal dominant pharmacogenetic disorder, characterized by hypermetabolic crisis triggered by halogenated anesthetics and/or succinylcholine. The standard method for diagnosing malignant hyperthermia susceptibility is the in vitro muscle contracture test in response to halothane-caffeine, which requires muscle biopsy under anesthesia. We describe a series of anesthetic procedures without triggering agents in malignant hyperthermia, comparing peripheral nerve block and subarachnoid anesthesia. METHOD: We assessed the anesthetic record charts of 69 patients suspected of malignant hyperthermia susceptibility who underwent muscle biopsy for in vitro muscle contracture in the period of 7 years. Demographic data, indication for malignant hyperthermia investigation, in vitro muscle contracture test results, and surgery/anesthesia/recovery data were analyzed. RESULTS: Sample with 34±13.7 years, 60.9% women, 65.2% of in vitro muscle contracture test positive. Techniques used: peripheral nerve blocks - lateral femoral and femoral cutaneous, latency 65±41minutes - (47.8%); subarachnoid anesthesia (49.3%), and total venous anesthesia (1.4%). There was 39.4% failure of peripheral nerve block and 11.8% of subarachnoid anesthesia. Adverse events (8.7%) occurred only with subarachnoid blockade (bradycardia, nausea, and transient neurological syndrome). All patients remained in the post-anesthesia care unit until discharge. Age and weight were significantly higher in patients with blockade failure (ROC cut-off point of 23.5 years and 59.5kg) and blockade failure was more frequent in the presence of increased idiopathic creatine kinase. CONCLUSION: Anesthesia with non-triggering agents has been shown to be safe in patients with malignant hyperthermia susceptibility. Variables such as age, weight, and history of increased idiopathic creatine kinase may be useful in selecting the anesthetic technique for this group of patients.